Finlands Akademi  
Sökande / Kontakt person Hinttala, Reetta
Organisation Uleåborgs universitet
Projektets titel Role of NHLRC2 in Developing Central Nervous System
Beslutnr 317711
Beslutsdatum 03.05.2018
Finansierings period 01.09.2018 - 31.08.2020
Finansiering 250 000
Beskrivning av projektet
Neural tube defects (NTDs) are among the most common birth defects worldwide. Our discovery of a fatal neurodegenerative disease in childhood with fibrosis, and leptomeningeal angiomatosis (FINLA disease) has highlighted the importance of new disease causing gene, NHLRC2, in central nervous system (CNS). Interestingly, in Angus cattle, NHLRC2 has been associated with NTDs. Here, we will measure NHLRC2 in pregnancy sera from the mothers of FINLA patients and from other donors of The Finnish Maternity Cohort and determine whether the levels of NHLRC2 can predict CNS defects of the fetus. We will study the basic function of Nhlrc2 during neurodevelopment in mice. This study will unveil the mechanisms behind severe birth defects and identify novel biomarkers for early detection of CNS defects including NTDs. Since folic acid supplementation is an effective method for primary prevention of NTDs, our study raises the possibility to an additional preventive strategy for human NTDs in future.